Acta Myologica最新文献_第9页

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. 由MYH7基因的一种新变异引起的早发性远端肌病伴肌层下透明体。

Acta Myologica Pub Date : 2020-03-01 DOI: 10.36185/2532-1900-004

Luís Negrão, Rita Machado, Miguel Lourenço, Ana Fernandez-Marmiesse, Olinda Rebelo

引用次数: 1

Myotonic dystrophy type 1 and high ventricular vulnerability at the electrophysiological evaluation: ICD yes or not? 1型强直性肌营养不良和高心室易损性电生理评估:ICD是否正确?

Acta Myologica Pub Date : 2020-03-01 DOI: 10.36185/2532-1900-006

Giusy Sirico, Andrea Montisci, Francesco Secchi, Massimo Mantica

引用次数: 0

Late-onset MADD: a rare cause of cirrhosis and acute liver failure? 迟发性MADD:肝硬化和急性肝衰竭的罕见病因?

Acta Myologica Pub Date : 2020-03-01 DOI: 10.36185/2532-1900-003

Patrick Soldath, Allan Lund, John Vissing

引用次数: 4

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family. 意大利一个三代家族DMPK突变前等位基因的鉴定、分子特征和分离分析。

Acta Myologica Pub Date : 2020-03-01 DOI: 10.36185/2532-1900-002

Luana Fontana, Massimo Santoro, Maria Rosaria D'Apice, Francesca Peluso, Giulia Gori, Amelia Morrone, Giuseppe Novelli, Laura Dosa, Annalisa Botta

{"title":"Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.","authors":"Luana Fontana, Massimo Santoro, Maria Rosaria D'Apice, Francesca Peluso, Giulia Gori, Amelia Morrone, Giuseppe Novelli, Laura Dosa, Annalisa Botta","doi":"10.36185/2532-1900-002","DOIUrl":"https://doi.org/10.36185/2532-1900-002","url":null,"abstract":"DM1 is an autosomal dominant multisystemic disease caused by an unstable CTG repeat expansion in the 3'-untranslated region (UTR) of the DMPK gene. The complex variant DMPK expanded the alleles containing CAG, CCG, CTC and/or GGC interruptions repetition sequences have been reported in 3-8% of DM1 patients. To date, very few information is available about the frequency and clinical consequences of pre-mutated DMPK variant allele. In this study, we describe a three-generation Italian family showing the segregation of an interrupted DMPK allele within the premutation range. TP-PCR with primers complementary to CCG repetitions and direct sequencing allow us to identify a hetero-triplet (CTG)6(CCGCTG)15(CTG)5 repeat structure. The haplotype analysis demonstrated that this variant allele is associated with the European founder DM1 haplotype. The pyrosequencing analysis of the CpG islands contained in the flanking regions of the CTG array, did not show the presence of a cis effect of the CCG interruptions on the methylation profile of the DM1 locus. The analysis of both meiotic transmissions, one maternal and one paternal, revealed the intrafamilial stability of the DM1 premutation among relatives. Our findings further support the hypothesis of a stabilizing effect of CCG interruptions on the mutational dynamics of the DM1 locus, also in intermediate DMPK alleles.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 1","pages":"13-18"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3c/8d/am-2020-01-13.PMC7315898.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38103918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels. 与血清镁水平正常的杂合Kv1.1 N255D突变相关的神经肌肉破伤风高兴奋性综合征

Acta Myologica Pub Date : 2020-03-01 DOI: 10.36185/2532-1900-007

Francesca Bianchi, Costanza Simoncini, Raffaella Brugnoni, Giulia Ricci, Gabriele Siciliano

{"title":"Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.","authors":"Francesca Bianchi, Costanza Simoncini, Raffaella Brugnoni, Giulia Ricci, Gabriele Siciliano","doi":"10.36185/2532-1900-007","DOIUrl":"https://doi.org/10.36185/2532-1900-007","url":null,"abstract":"Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal distal convoluted tubule segment, mutations in the KCNA1 gene encoding for Kv1.1 has been associated with hypomagnesemia with myokymia and tetanic crises. Here we describe a case of a young female patient who came to our attention for a history of muscular spasms, tetanic episodes and muscle weakness, initially misdiagnosed for fibromyalgia. After a genetic screening she was found to be carrier of the c.736A > G (p.Asn255Asp) mutation in KCNA1, previously described in a family with autosomal dominant hypomagnesemia with muscular spasms, myokymia and tetanic episodes. However, our patient has always presented normal serum and urinary magnesium values, whereas she was affected by hypocalcemia. Calcium supplementation gave only partial clinical benefit, with an improvement on tetanic episodes yet without a clinical remission of her spasms, whereas magnesium supplementation worsened her muscular symptomatology.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 1","pages":"36-39"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/6f/am-2020-01-36.PMC7315896.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38104401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey. 杜氏肌营养不良患者的凝血功能障碍?基于注册表的在线调查结果。

Acta Myologica Pub Date : 2020-03-01 DOI: 10.36185/2532-1900-001

David C Schorling, Cornelia K Müller, Astrid Pechmann, Sabine Borell, Thorsten Langer, Simone Thiele, Maggie C Walter, Barbara Zieger, Janbernd Kirschner

{"title":"Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey.","authors":"David C Schorling, Cornelia K Müller, Astrid Pechmann, Sabine Borell, Thorsten Langer, Simone Thiele, Maggie C Walter, Barbara Zieger, Janbernd Kirschner","doi":"10.36185/2532-1900-001","DOIUrl":"https://doi.org/10.36185/2532-1900-001","url":null,"abstract":"Different complications of hemostasis have been reported in patients with Duchenne Muscular Dystrophy (DMD). These comprise an increased rate of bleeding-symptoms during scoliosis surgery but also thromboembolic complications such as pulmonary embolism, cerebral infarction, deep vein thrombosis or cardiac thrombus. For this cross-sectional study, personalized online survey-links were forwarded to 682 registered patients with a genetically confirmed diagnosis of DMD via the German-Austrian DMD patient registry (www.dmd-register.de). The questionnaire enquired data regarding the degree of mobility, disposition to hematoma, epistaxis and gum bleeding, occurrence of peri- and postsurgical hemorrhage, stroke, deep vein thrombosis, and cardiac thromboembolism. Further data on regular medication and age were recorded. Three-hundred-fifty-one DMD-patients completed the questionnaire (response rate of 51.5%). Of those, 164 (46.7%) were ambulatory and 187 (53.3%) were non-ambulatory. Age distribution was homogeneous. Two participants had a history of thromboembolic events (0.6%). Correlations analysis revealed no coherence with the degree of mobility, age or regular medication. A bleeding tendency was reported by 76 participants (21.7%). No significant correlations with age or degree of mobility were found. We found no association with underlying genetic variants. Results of this patient registry-based survey do not indicate a distinct DMD-specific risk for thromboembolic events that exceeds the risk by typical comorbidities of chronic immobility and cardiac insufficiency in advanced stages of the disease. The results of this survey suggest a mild bleeding tendency in this DMD cohort, whereas a selection bias cannot be excluded.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 1","pages":"2-12"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/98/f8/am-2020-01-02.PMC7315897.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38103917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Exercise therapy for muscle and lower motor neuron diseases. 肌肉及下运动神经元疾病的运动疗法。

Acta Myologica Pub Date : 2019-12-01

Aisha Munawar Sheikh, John Vissing

{"title":"Exercise therapy for muscle and lower motor neuron diseases.","authors":"Aisha Munawar Sheikh, John Vissing","doi":"","DOIUrl":"","url":null,"abstract":"Muscle and lower motor neuron diseases share a common denominator of perturbed muscle function, most often related to wasting and weakness of muscles. This leads to a number of challenges, such as restricted mobility and respiratory difficulties. Currently there is no cure for these diseases. The purpose of this review is to present research that examines the effects of exercise in muscle and lower motor neuron diseases. Evidence indicates that moderate intensity aerobic- and strength exercise is advantageous for patients with muscle diseases, without causing harmful exercise-induced muscle damage. On the contrary, motor neuron diseases show a rather blunted response from exercise training. High-intensity training is a modality that seems safe and a promising exercise method, which may circumvent neural fatigue and provide effect to patients with motor neuron disease. Although we have come far in changing the view on exercise therapy in neuromuscular diseases to a positive one, much knowledge is still needed on what dose of time, intensity and duration should be implemented for different disease and how we should provide exercise therapy to very weak, non-ambulatory and wheelchair bound patients.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"38 4","pages":"215-232"},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3f/1a/am-2019-04-215.PMC6955630.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37570108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fatigue in myotonic dystrophy type 1: a seven-year prospective study. 1型强直性肌营养不良患者的疲劳:一项为期7年的前瞻性研究。

Acta Myologica Pub Date : 2019-12-01

Stojan Peric, Bogdan Bjelica, Ivo Bozovic, Jovan Pesovic, Teodora Paunic, Marija Banovic, Milos Brkusanin, Ksenija Aleksic, Ivana Basta, Dusanka Savic Pavicevic, Vidosava Rakocevic Stojanovic

{"title":"Fatigue in myotonic dystrophy type 1: a seven-year prospective study.","authors":"Stojan Peric, Bogdan Bjelica, Ivo Bozovic, Jovan Pesovic, Teodora Paunic, Marija Banovic, Milos Brkusanin, Ksenija Aleksic, Ivana Basta, Dusanka Savic Pavicevic, Vidosava Rakocevic Stojanovic","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Cross-sectional studies reported fatigue in 50-90% of patients with myotonic dystrophy type 1 (DM1). The aim of this research was to assess frequency of fatigue in DM1 patients during a seven-year period.Materials and methods: Study included 64 DM1 patients at baseline (50% males, age 42 ± 12 years), and 38 after seven years. Following scales were used: Muscular Impairment Rating Scale (MIRS), Fatigue Severity Scale (FSS, score equal to or greater than 36 indicates significant fatigue), and Daytime Sleepiness Scale (DSS, score of more than six is considered significant).Results: At baseline, 54% of DM1 patients had fatigue and 46% had excessive daytime sleepiness (EDS). Ten (32%) patients with fatigue had no EDS. At the baseline, patients with fatigue were older, were more likely to had adult-onset DM1, worse MIRS and DSS compared to the patients without fatigue. After seven years, FSS score increased (34 ± 15 vs 48 14, p < 0.01), fatigue was found in 82% of patients, and EDS in 60%. Still eight (26%) patients with fatigue had no EDS. Fatigue progression did not parallel MIRS increase.Conclusions: Fatigue is a common symptom of DM1 and its progression during time did not correlate with the progression of muscle weakness.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"38 4","pages":"239-244"},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/82/b5/am-2019-04-239.PMC6955629.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37570500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Physiological aspects of muscular adaptations to training translated to neuromuscular diseases. 肌肉适应训练的生理方面转化为神经肌肉疾病。

Acta Myologica Pub Date : 2019-12-01

Angela Berardinelli, Giuseppe D'Antona

引用次数: 0

Exercise therapy in muscle diseases: open issues and future perspectives. 肌肉疾病的运动治疗:开放性问题和未来展望。

Acta Myologica Pub Date : 2019-12-01

Gabriele Siciliano, Erika Schirinzi, Costanza Simoncini, Giulia Ricci

{"title":"Exercise therapy in muscle diseases: open issues and future perspectives.","authors":"Gabriele Siciliano, Erika Schirinzi, Costanza Simoncini, Giulia Ricci","doi":"","DOIUrl":"","url":null,"abstract":"In muscle diseases different molecular mechanisms are responsible, by distinct cellular pathways, of muscle fibers contraction insufficiency and exercise intolerance. Depending on that, exercise therapy is a promising avenue to efficaciously counteract the loss of muscle fiber function or also the secondary effects due to the sedentary lifestyle as a consequence of the motor impairment. It has been debated whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders, especially in some conditions as eccentric or maximal exercise. Several reports now suggest that supervised aerobic exercise training is safe and may be considered effective in improving oxidative capacity and muscle function in patients with various muscle disorders, including muscular dystrophies and metabolic myopathies, providing that it can be personalized and sized over the single patient capability. In doing that, advancement in outcomes measure recording and exercise delivery monitoring with comfortable investigation methods to assess muscle function and structure can be useful to detect the beneficial effects of a supervised motor training. Based on these considerations, but also especially considering the emerging new therapies in the field of neuromuscular disorders, exercise training can be included as part of the rehabilitation program for patients with a muscle disease, assumed it should be strictly supervised for its effects and to prevent involuntary muscle damage.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"38 4","pages":"233-238"},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fc/bb/am-2019-04-233.PMC6955631.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37570109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0